Variant report

Variant	esv2760577
Chromosome Location	chr11:107112270-107128014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107121227..107123059-chr11:107129085..107131752,2	K562	blood:
2	chr11:107108368..107111074-chr11:107113381..107114991,2	K562	blood:
3	chr11:107114259..107116985-chr11:107121608..107123484,2	K562	blood:
4	chr11:107123368..107125286-chr11:107129770..107131910,2	K562	blood:
5	chr11:107114259..107116985-chr11:107121608..107123484,2	K562	blood:

Extended variants
information (count: 609 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78255459	chr11:107114001-107114002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527316157	chr11:107114012-107114013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547285155	chr11:107114054-107114055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7108632	chr11:107114060-107114061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs541748202	chr11:107114079-107114080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563534094	chr11:107114086-107114087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536557007	chr11:107114131-107114132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143034663	chr11:107114183-107114184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374414836	chr11:107114185-107114186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10890666	chr11:107114199-107114200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs113655598	chr11:107114218-107114219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10890667	chr11:107114222-107114223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564105118	chr11:107114239-107114240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528153371	chr11:107114240-107114241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546724879	chr11:107114270-107114271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562134810	chr11:107114332-107114333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114377233	chr11:107114420-107114421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7112390	chr11:107114446-107114447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569177962	chr11:107114465-107114466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539757036	chr11:107114478-107114479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183506463	chr11:107114536-107114537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186787436	chr11:107114561-107114562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10789581	chr11:107114574-107114575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554317825	chr11:107114582-107114583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555868454	chr11:107114585-107114586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149612037	chr11:107114597-107114598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374821866	chr11:107114598-107114599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574058076	chr11:107114630-107114631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11603183	chr11:107114685-107114686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557210206	chr11:107114687-107114688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575594127	chr11:107114688-107114689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191581293	chr11:107114708-107114709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371417495	chr11:107114715-107114716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74961628	chr11:107114808-107114809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184579147	chr11:107114831-107114832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112074022	chr11:107114889-107114890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189855495	chr11:107114904-107114905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12800877	chr11:107114939-107114940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6588953	chr11:107114975-107114976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562773360	chr11:107114996-107114997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533422463	chr11:107114999-107115000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551704052	chr11:107115054-107115055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562903283	chr11:107115082-107115083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566743010	chr11:107115109-107115110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531819479	chr11:107115113-107115114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143850108	chr11:107115140-107115141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549110524	chr11:107115168-107115169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34471333	chr11:107115169-107115170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113442448	chr11:107115231-107115232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567716338	chr11:107115254-107115255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107114000-107115200	Enhancers	HepG2	liver
2	chr11:107114800-107115000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:107115200-107116200	Weak transcription	HepG2	liver
4	chr11:107116000-107116200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:107116000-107116600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:107116000-107116600	Enhancers	K562	blood
7	chr11:107116200-107116400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:107116200-107116400	Enhancers	HepG2	liver
9	chr11:107116400-107116600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:107116400-107116600	Weak transcription	HepG2	liver
11	chr11:107116600-107119800	Weak transcription	K562	blood
12	chr11:107117600-107119800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:107118000-107120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:107119800-107120200	Enhancers	K562	blood
15	chr11:107120200-107123400	Weak transcription	K562	blood
16	chr11:107120800-107121000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:107123200-107124000	Enhancers	GM12878-XiMat	blood
18	chr11:107123400-107126200	Enhancers	K562	blood
19	chr11:107123800-107125800	Enhancers	HepG2	liver
20	chr11:107125400-107125800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:107125400-107126000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:107125400-107126200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:107125400-107126200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:107125400-107126200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:107125400-107126200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:107125800-107126200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:107125800-107126200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:107126200-107139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:107128000-107128400	Enhancers	Brain Germinal Matrix	brain
30	chr11:107128000-107130800	Enhancers	Cortex derived primary cultured neurospheres	brain

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